World CDG Awareness Day 2019

Today is World CDG Awareness Day, so we're all decked out in green shirts to raise awareness and show our love and support for Teddy. (Green is the color for CDGs.)

When Teddy was first diagnosed, we were told he was the 15th child in the world with his particular diagnosis of Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (MCAHSS1). With our visit to the National Institutes of Health last year, his diagnosis was simplified to Congenital Disorders of Glycosylation of the PIGN gene or CDG-PIGN because he didn't fit all the characteristics of MCAHSS1.

As you saw earlier this week with the The Smiling Faces of CDG-PIGN are Growing!, there's far more than 15 children with CDG-PIGN. My best estimate within our group is that there are at least 7 more children who weren't included within that post for various reasons. We know there's another 7 and probably a couple more who are documented in research papers who aren't connected to our group.

That still leaves us with less than 50 cases collectively known and documented in the world. So why is CDG-PIGN so rare? There's a few rather simple reasons:

1. As our geneticist explained to us, there's way less than a 1 percent chance that any person carries this type of genetic mutation in their PIGN gene that can manifest in this disorder. Then, that person needs to find another person with that way less than a 1 percent chance of a genetic mutation. Then, there's a 1:4 chance of a child of those two people having CDG-PIGN because these are recessive mutations. That means that 3 out of 4 children from those two people statistically would be unaffected. One out of 4 won't even be a carrier of the recessive genetic mutation. 
2. CDG-PIGN, at least the MCAHSS1 variety, wasn't even discovered until 2011. That's mind blowing to me. There was a definite feeling of amazement, and not in a good way, when a Google search resulted in literally 3 different responses back when we got Teddy's original diagnosis. (I'm so happy that this blog now shows as one of the top results when you search CDG and PIGN together. That's one of the reasons we've been able to connect more families who are recently diagnosed.) There are probably plenty of people who have or had CDG-PIGN who were incorrectly diagnosed. We know that because several members of our group were misdiagnosed for years before getting the correct diagnosis. At some point, most people just stop looking for answers and don't continue to seek a diagnosis either because all options known at the time were exhausted or they were simply exhausted with the process. 
3. The only way, to my knowledge, to diagnose CDG-PIGN is through genetic testing. For us, that was an extremely expensive test that took months to complete called exome sequencing. Basically it's the equivalent of scooping up all the DNA you can and then looking through the exome, the section of DNA that is most understood, for each gene. When something comes back abnormal, it's checked against databases for known disorders as well as against the parents' DNA. It's so expensive that it's often not covered by insurance companies and certainly not by Medicaid. It's also a test that wouldn't be available in a country without the same medical testing that's available in first-world countries.

It took us 2 years to find Teddy's diagnosis after lots of doctor's appointments and tests that all came back normal/negative while Teddy was clearly anything but normal. We're grateful to have a diagnosis, even though the diagnosis really only raised more questions. It allowed us to connect with others and not feel so alone. Trust me, when you're told your child is one of 15 in the entire world, that's a pretty lonely feeling especially when most of those 15 were deceased according to the medical literature. 

It's also allowed us, along with others in our group of CDG-PIGN families, to raise awareness of the disorder and to give hope to others, especially those just getting the rather grim diagnosis. Medical research papers are rather slow to catch up to our children's progress. Our children are so much more than what's described in medical literature. So many of them defy the odds and, quite frankly, are writing their own futures. I'm grateful to be a part of Teddy's amazing story.